孤立性促肾上腺皮质激素缺乏症的诊疗进展

The progress of diagnosis and treatment of isolated adrenocorticotropic hormone deficiency

孤立性促肾上腺皮质激素缺乏症(IAD)是一种罕见病, 表现为单纯的下丘脑-垂体-肾上腺轴受累, 血清皮质醇水平降低, 促肾上腺皮质激素水平绝对或相对不足, 甲状腺轴、生长激素轴及性腺轴功能正常。IAD的具体发病机制尚不明确, 可能与机体自身免疫性破坏、垂体缺血性损伤、促肾上腺皮质激素释放激素缺乏、POMC基因缺陷、转录因子基因突变、激素原转化酶1结构突变, 以及药物性损伤有关;IAD的临床表现缺乏特异性, 成人及部分型的IAD患者多表现为乏力、纳差、恶心, 以及不同程度的低血糖、低血钠, 完全型IAD的患者症状相对较重, 常见有严重低血糖、癫痫发作、胆汁淤积性黄疸;IAD的诊断关键在于腺垂体和靶腺激素水平的测定, 治疗以补充糖皮质激素为主。临床上, 很多患者症状反复发作, 长期得不到确诊, 严重影响了生活质量。因此, 本综述通过对IAD临床特点的讨论, 以提高医生对该疾病的认识, 使患者能够得到早期诊断、早期治疗, 获得良好的预后。

Isolated adrenocorticotropic hormone deficiency(IAD)is a rare disease characterized by pure involvement of the hypothalamus-pituitary-adrenal axis,decreased serum cortisol level,absolute or relative deficiency of adrenocorticotropic hormone(ACTH)level,but normal functions of the thyroid axis,growth hormone axis and gonad axis.The specific pathogenesis of IAD is still unclear,and may be related to autoimmune destruction,ischemic injure to the pituitary,CRH deficiency,POMC gene defects,transcription factor gene mutations,abnormal structure of PC1,and drug-related injuries.The clinical manifestations of IAD are lack of specificity;adult idiopathic isolated ACTH deficiency patients and partial congenital isolated ACTH deficiency patients mostly manifested as fatigue,poor appetite,nausea,varying degrees of hypoglycemia and hyponatremia.Patients with complete congenital isolated ACTH deficiency have relatively severe symptoms,including severe hypoglycemia,seizures,and cholestatic jaundice.The key to the diagnosis of IAD is to measure the hormone levels of pituitary and target gland,and glucocorticoid supplementation is the main treatment.Many IAD patients remain undiagnosed for a long time,which seriously affects the quality of their life.Therefore,this paper systematically describes the characteristics of IAD to improve our understanding of the disease,so that patients can receive early diagnosis and treatments and obtain a good prognosis.